| Term Name: | congenital hypotrichosis with juvenile macular dystrophy |
|---|---|
| Synonyms: | HJMD, hypotrichosis with cone-rod dystrophy |
| Definition: | A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. |
| Ontology: | Human Disease [DOID:0110711] ( DOID:0110711 ) |